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oculopharyngodistal myopathy 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculopharyngodistal myopathy 1

MONDO:0020793

Also known as:oculopharyngodistal myopathyOPDM1faciooculolaryngopharyngeal myopathy with distal and respiratory involvement

Overview

GeneticsAutosomal dominant · LRP12 (chr 8)

OnsetMIDDLE_AGE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Distal amyotrophy, Muscle spasm, Brain atrophy, and Rimmed vacuoles and others; and very common findings: Ophthalmoparesis, Ptosis, EMG: myopathic abnormalities, and External ophthalmoplegia. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11	Muscle spasm, Distal muscle weakness, Brain atrophy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LRP12 encodes LDL receptor related protein 12 (859 aa). Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor Highest expression in Cells Cultured fibroblasts (21.3 TPM) and Uterus (17.0 TPM).

Oculopharyngodistal myopathy 1 has been associated with mutations in the LRP12 gene on chromosome 8.

LRP12 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LRP12 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for oculopharyngodistal myopathy 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 always present features, 4 very common features, 8 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for oculopharyngodistal myopathy 1.

24 publications have been identified in PubMed for oculopharyngodistal myopathy 1. Research spans Basic Science / Preclinical (46%), Review / Meta-Analysis (21%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	11	46%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:164310

GARD

Genetic and Rare Diseases Info Center

GARD:15097

Questions for Your Care Team

→Should I pursue genetic testing for LRP12, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

oculopharyngodistal myopathy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

oculopharyngodistal myopathy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications